Familial transthyretin amyloidosis

Disease Overview

Familial transthyretin amyloidosis (FTA) is a rare inherited condition characterized by abnormal build-up of a protein called amyloid in the body’s organs and tissues.[3689][13979] Symptoms start in adulthood and get worse over time. Signs and symptoms depend on where the amyloid protein is building up.[3689] Amyloid build-up in the nerves of the peripheral nervous system causes a loss of sensation in the lower limbs, feet, and hands (peripheral neuropathy). Amyloid build-up can also affect the involuntary body functions, such as blood pressure, heart rate, and digestion.[3689][13979] Other areas of the body that may be affected are the heart, kidneys, eyes, and gastrointestinal tract.[3689]

FTA is caused by changes (mutations) in the TTR gene. Inheritance is autosomal dominant, but not all people with a TTR gene mutation will develop FTA.[13979][13980] Diagnosis of FTA is suspected by signs and symptoms and confirmed by tissue biopsy and genetic testing.[3689]

Primary treatment is a liver transplantation. This procedure removes the main source of amyloid from the body, but amyloid may still build-up in the heart, brain, and eyes. New medications have become available that block the formation of amyloid and may provide an alternative to liver transplant. Other treatments include heart and/or kidney transplantation, putting in a pacemaker, replacing the fluid in the eye (vitrectomy), and various medications.[13980] FTA is typically a fatal condition, but life expectancy depends on many factors.[3689][13980] 

Synonyms

• Hereditary ATTR amyloidosis
• Amyloidosis, hereditary, transthyretin-related
• Transthyretin amyloidosis
• Familial amyloid polyneuropathy
• Amyloidosis Transthyretin related
• Transthyretin amyloid neuropathy
• TTR amyloid neuropathy
• Transthyretin amyloid polyneuropathy